Jayasree, Divya ; Shaji, Ramachandran V. ; George, Biju ; Mathews, Vikram ; Srivastava, Alok ; Edison, Eunice S. (2016) Clinical, hematological and molecular analysis of homozygous Hb E (HBB: c.79G > A) in the Indian population Hemoglobin, 40 (1). pp. 16-19. ISSN 0363-0269
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Official URL: https://www.tandfonline.com/doi/abs/10.3109/036302...
Related URL: http://dx.doi.org/10.3109/03630269.2015.1086880
Abstract
Homozygous Hb E [β26(B8)Glu→Lys; HBB: c.79G > A] is a clinically mild disease with no significant symptoms. Very few studies are available on clinical variability in Hb E disorders. We report the profile of a series of homozygous Hb E patients in the Indian population. We analyzed various genetic factors that contribute to the heterogeneity in the phenotype of homozygous Hb E patients. Analysis of these parameters further enhances our understanding of the Hb E syndrome.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Taylor and Francis Group. |
| Keywords: | BCL11A Gene; Heterogeneity; Homozygous Hb E; India |
| ID Code: | 114003 |
| Deposited On: | 07 Jun 2018 11:48 |
| Last Modified: | 07 Jun 2018 12:15 |
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